Summary: This gene encodes vitamin D3 receptor, which is a member of the nuclear hormone receptor superfamily of ligand-inducible transcription factors. This receptor also functions as a receptor for the secondary bile acid, lithocholic acid. Downstream targets of vitamin D3 receptor are principally involved in mineral metabolism, though this receptor regulates a variety of other metabolic pathways, such as those involved in immune response and cancer. Mutations in this gene are associated with type II vitamin D-resistant rickets. A single nucleotide polymorphism in the initiation codon results in an alternate translation start site three codons downstream. Alternatively spliced transcript variants encoding different isoforms have been described for this gene. A recent study provided evidence for translational readthrough in this gene, and expression of an additional C-terminally extended isoform via the use of an alternative in-frame translation termination codon. [provided by RefSeq, Jun 2018].

vitamin D receptorMIM:601769Ensembl:ENSG00000111424HGNC:HGNC:12679PA3730112q13.11

GO terms in VDR

Term TypeEvidence TypeGO Term IDGO Des.
MFIBAGO:0000976transcription regulatory region sequence-specific DNA binding
MFIBAGO:0000977RNA polymerase II regulatory region sequence-specific DNA binding
MFISAGO:0000981RNA polymerase II transcription factor activity, sequence-specific DNA binding
MFISMGO:0000981RNA polymerase II transcription factor activity, sequence-specific DNA binding
MFNASGO:0000981RNA polymerase II transcription factor activity, sequence-specific DNA binding
MFIBAGO:0001076transcription factor activity, RNA polymerase II transcription factor binding
MFIDAGO:0003677DNA binding
MFIBAGO:0003700DNA-binding transcription factor activity
MFIDAGO:0003700DNA-binding transcription factor activity
MFIEAGO:0003707steroid hormone receptor activity
MFIBAGO:0004879nuclear receptor activity
MFIBAGO:0005499vitamin D binding
MFIPIGO:0005515protein binding
MFIBAGO:0008134transcription factor binding
MFIEAGO:0008270zinc ion binding
MFIBAGO:0008434calcitriol receptor activity
MFIDAGO:0008434calcitriol receptor activity
MFIMPGO:0008434calcitriol receptor activity
MFIBAGO:0030374nuclear receptor transcription coactivator activity
MFIDAGO:0038186lithocholic acid receptor activity
MFIDAGO:0046965retinoid X receptor binding
MFIPIGO:0046965retinoid X receptor binding
MFIBAGO:0070644vitamin D response element binding
MFIDAGO:0070644vitamin D response element binding
MFIBAGO:0098531transcription factor activity, direct ligand regulated sequence-specific DNA binding
MFIBAGO:1902098calcitriol binding
MFIDAGO:1902098calcitriol binding
MFIMPGO:1902098calcitriol binding
MFIDAGO:1902121lithocholic acid binding
BPIDAGO:0000122negative regulation of transcription by RNA polymerase II
BPIMPGO:0000902cell morphogenesis
BPIEAGO:0001501skeletal system development
BPTASGO:0006367transcription initiation from RNA polymerase II promoter
BPIEAGO:0006816calcium ion transport
BPIEAGO:0006874cellular calcium ion homeostasis
BPTASGO:0007165signal transduction
BPIBAGO:0007275multicellular organism development
BPIDAGO:0008285negative regulation of cell proliferation
BPIBAGO:0009887animal organ morphogenesis
BPIMPGO:0010628positive regulation of gene expression
BPIMPGO:0010839negative regulation of keratinocyte proliferation
BPIDAGO:0010980positive regulation of vitamin D 24-hydroxylase activity
BPIBAGO:0030154cell differentiation
BPIDAGO:0038183bile acid signaling pathway
BPTASGO:0042359vitamin D metabolic process
BPIEAGO:0043401steroid hormone mediated signaling pathway
BPIMPGO:0045618positive regulation of keratinocyte differentiation
BPIDAGO:0045892negative regulation of transcription, DNA-templated
BPIBAGO:0045944positive regulation of transcription by RNA polymerase II
BPIMPGO:0045944positive regulation of transcription by RNA polymerase II
BPIEAGO:0050892intestinal absorption
BPIEAGO:0060058positive regulation of apoptotic process involved in mammary gland involution
BPIBAGO:0060429epithelium development
BPISSGO:0060558regulation of calcidiol 1-monooxygenase activity
BPIEAGO:0060745mammary gland branching involved in pregnancy
BPIDAGO:0070561vitamin D receptor signaling pathway
BPIMPGO:0070561vitamin D receptor signaling pathway
CCIDAGO:0043235receptor complex
CCIBAGO:0090575RNA polymerase II transcription factor complex
CCIDAGO:0090575RNA polymerase II transcription factor complex

Gene expression in normal tissue: VDR

Gene-model tissue-cancer distribution: Bubble Plot

Gene-drug pathway distribution

Pathways in VDR

DatabasePathway IDPathway Des.
reactomeR-HSA-196791Vitamin D (calciferol) metabolism
reactomeR-HSA-212436Generic Transcription Pathway
reactomeR-HSA-3108232SUMO E3 ligases SUMOylate target proteins
reactomeR-HSA-383280Nuclear Receptor transcription pathway
reactomeR-HSA-392499Metabolism of proteins
reactomeR-HSA-4090294SUMOylation of intracellular receptors
reactomeR-HSA-556833Metabolism of lipids
reactomeR-HSA-597592Post-translational protein modification
reactomeR-HSA-73857RNA Polymerase II Transcription
reactomeR-HSA-74160Gene expression (Transcription)
reactomeR-HSA-8957322Metabolism of steroids
piddeltanp63pathwayValidated transcriptional targets of deltaNp63 isoforms
pidp53downstreampathwayDirect p53 effectors
pidretinoic_acid_pathwayRetinoic acid receptors-mediated signaling
pidrxr_vdr_pathwayRXR and RAR heterodimerization with other nuclear receptor
pidsmad2_3nuclearpathwayRegulation of nuclear SMAD2/3 signaling
pidtap63pathwayValidated transcriptional targets of TAp63 isoforms
pharmgkbPA2025Etoposide Pathway, Pharmacokinetics/Pharmacodynamics
kegghsa04961Endocrine and other factor-regulated calcium reabsorption - Homo sapiens (human)
kegghsa04978Mineral absorption - Homo sapiens (human)
kegghsa05152Tuberculosis - Homo sapiens (human)
wikipathwaysWP1531Vitamin D Metabolism
wikipathwaysWP170Nuclear Receptors
wikipathwaysWP2289Drug Induction of Bile Acid Pathway
wikipathwaysWP2877Vitamin D Receptor Pathway
wikipathwaysWP2882Nuclear Receptors Meta-Pathway
wikipathwaysWP299Nuclear Receptors in Lipid Metabolism and Toxicity
wikipathwaysWP34Ovarian Infertility Genes
wikipathwaysWP4141PI3K-AKT-mTOR - VitD3 Signalling

Gene-Drug: Aster Plot

Drug IDDrug NameModel Num.
iGMDRD267Oligomycin A3
iGMDRD446LY 21832403
iGMDRD341Triacsin c1

Gene in drug-gene network: Network Plot

Gene-drug targets distribution

Gene Structure: PDB

Models in VDR